Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR2
Variant:p.D50N
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ANTXR2

NM_058172.6:p.D50N

Associated Papers

Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis.

Bürgi J et al.

Developmental Cell, 2020

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.

Bürgi J et al.

Nature Communications, 2017

28604699 (PubMed )
Supplement: ncomms15861-s1.pdf

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

Haidar Z et al.

Bmc Genetics, 2017

The dark sides of capillary morphogenesis gene 2.

Deuquet J et al.

The Embo Journal, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."